(88) Mullerian Anomalies in Patients with Congenital Heart Defects

Background: Appropriate diagnosis of Mullerian anomalies (MA) is important to mitigate potential bleeding and pain symptoms affecting quality of life in the pediatric population, as well as for anticipatory guidance on future fertility and obstetric outcomes. Congenital heart defects (CHD) are known to be associated with various congenital anomalies, however, there have been no large studies examining the prevalence of MA in CHD patients. This study examines the prevalence of MA in a diverse CHD cohort.

Methods: A retrospective chart review was performed at a single academic children’s hospital. Female patients ages 0-21 years old with CHD were identified using ICD-10 codes and patients who had a coexisting MA by ICD-10 codes were included (11/1991-8/2023). Demographics were collected. Chart review included characterization of CHD, MA, and any other congenital anomalies. This study was approved by our institution's IRB. Descriptive statistics were utilized.

Results: 1476 patients with CHD were identified on the basis of ICD-10 codes. 251 (17%) of these patients had a MA. Following chart review 92 patients were confirmed to have a specific MA, diagnosed by a gynecologist, in addition to CHD. The age at diagnosis ranged from 0-21 years (population mean age=7, SD=6.8). The ethnic demographics were as follows: 48% Hispanic, 33% White, 14% Black, 4% Asian, and 1% Other. Of these patients with a specific MA diagnosis, 8 also had a urogenital sinus (9%), 13 had a cloacal anomaly (14%), and 19 had VACTERL (vertebral, anorectal, cardiac, tracheoesophageal, renal, and limb) association (21%).

Conclusions: In our study, 17% of patients with CHD had a coexisting MA. Many additionally had a urogenital sinus or cloacal malformation, and VACTERL association was present in 19%. Early diagnosis of MA is important to minimize potential sequelae including endometriosis, pain, abnormal bleeding, and infertility. Given our findings, we support the consideration of developing recommendations that include pelvic ultrasound screening for MA in patients with CHD as they enter puberty, as no guidelines have been developed to date. This may be of particular importance in CHD patients with VACTERL association. Further analysis to assess types of CHD and types of MA that are more prevalent concurrently is needed and an area for future study.